267 related articles for article (PubMed ID: 30884209)
21. Long-Term Correction of Copper Metabolism in Wilson's Disease Mice with AAV8 Vector Delivering Truncated ATP7B.
Leng Y; Li P; Zhou L; Xiao L; Liu Y; Zheng Z; Qin F; Hao Q; Xu H; Yao S; Dong B
Hum Gene Ther; 2019 Dec; 30(12):1494-1504. PubMed ID: 31668086
[TBL] [Abstract][Full Text] [Related]
22. Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y; Ni W; Chen WJ; Wan B; Zhao GX; Shi ZQ; Zhang Y; Wang N; Yu L; Xu JF; Wu ZY
Theranostics; 2016; 6(5):638-49. PubMed ID: 27022412
[TBL] [Abstract][Full Text] [Related]
23. Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
Stalke A; Behrendt A; Hennig F; Gohlke H; Buhl N; Reinkens T; Baumann U; Schlegelberger B; Illig T; Pfister ED; Skawran B
Clin Genet; 2023 Aug; 104(2):174-185. PubMed ID: 37157876
[TBL] [Abstract][Full Text] [Related]
24. A Special Case of Cirrhosis with a Novel ATP7B Mutation and Occult Chronic HBV Infection.
Jiang Y; Chen M; Ruan Y; Ma J; Li N
J Coll Physicians Surg Pak; 2021 Oct; 31(10):1231-1233. PubMed ID: 34601848
[TBL] [Abstract][Full Text] [Related]
25. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
Tomić A; Dobricić V; Novaković I; Svetel M; Pekmezović T; Kresojević N; Potrebić A; Kostić VS
Vojnosanit Pregl; 2013 May; 70(5):457-62. PubMed ID: 23789284
[TBL] [Abstract][Full Text] [Related]
26. [Phenotypes and ATP7B gene variants in 316 children with Wilson disease].
Lu ZK; Cheng J; Li SM; Lin YT; Zhang W; Li XZ; Sheng HY; Mao XJ; Mei HF; Zheng RD; Liang CL; Jiang MY; Huang YL; Liu L; Zeng CH
Zhonghua Er Ke Za Zhi; 2022 Apr; 60(4):317-322. PubMed ID: 35385937
[No Abstract] [Full Text] [Related]
27. Phenotype and molecular characterization of Wilson's disease in Morocco.
Abbassi N; Bourrahouat A; Bedoya EC; Pagan C; Qabli ME; Maidoumi S; Belmalih A; Guillaud O; Kissani N; Abkari A; Chahid I; Rafai MA; Mouane N; Kriouile Y; Aidi S; Hida M; Idrissi ML; Belahsen MF; Abkari ME; Rkain M; Ismaili Z; Sedki A; Bost M; Aboussair N; Lachaux A
Clin Res Hepatol Gastroenterol; 2024 May; 48(5):102335. PubMed ID: 38588792
[TBL] [Abstract][Full Text] [Related]
28. Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
Zhang DF; Teng JF
Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706781
[TBL] [Abstract][Full Text] [Related]
29. Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X; Zhang W; Zhou D; Lv T; Xu A; Wang H; Zhao X; Zhang B; Li Y; Jia S; Wang Y; Wang X; Wu Z; Duan W; Wang Q; Nan Y; Shang J; Jiang W; Chen Y; Zheng S; Liu M; Sun L; You H; Jia J; Ou X; Huang J
Hum Mutat; 2019 May; 40(5):552-565. PubMed ID: 30702195
[TBL] [Abstract][Full Text] [Related]
30. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609
[TBL] [Abstract][Full Text] [Related]
31. Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
Sundaresan S; Eapen CE; Shaji RV; Chandy M; Kurian G; Chandy G
Med Sci Monit; 2007 Mar; 13(3):CS38-40. PubMed ID: 17325640
[TBL] [Abstract][Full Text] [Related]
32. Development and evaluation of an unlabeled probe high-resolution melting assay for detection of ATP7B mutations in Wilson's disease.
Xu A; Lv T; Zhang B; Zhang W; Ou X; Huang J
J Clin Lab Anal; 2017 Jul; 31(4):. PubMed ID: 27638368
[TBL] [Abstract][Full Text] [Related]
33. ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
Gorukmez O; Özgür T; Gorukmez O; Topak A
Fetal Pediatr Pathol; 2023 Dec; 42(6):891-900. PubMed ID: 37737146
[No Abstract] [Full Text] [Related]
34. A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing.
Liu WL; Li F; Liu L; Chen W; He ZX; Gu H; Ai R
Mol Med Rep; 2020 Jan; 21(1):517-523. PubMed ID: 31746411
[TBL] [Abstract][Full Text] [Related]
35. A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.
Zhang Z; Liu J; Zheng W; Hou Q; Zhang L
J Musculoskelet Neuronal Interact; 2020 Dec; 20(4):614-618. PubMed ID: 33265091
[TBL] [Abstract][Full Text] [Related]
36. [Research progress in gene therapy for Wilson's disease].
Tang S; Bai L; Zheng SJ
Zhonghua Gan Zang Bing Za Zhi; 2021 Jan; 29(1):21-24. PubMed ID: 33541020
[TBL] [Abstract][Full Text] [Related]
37. New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
Lu CX; Qing Lin ; Huang WQ; Tzeng CM
Eur J Med Genet; 2014 Sep; 57(9):498-502. PubMed ID: 24878384
[TBL] [Abstract][Full Text] [Related]
38. [Management of hepatolenticular degeneration during pregnancy].
Bai J; Zheng SJ; Duan ZP
Zhonghua Gan Zang Bing Za Zhi; 2022 Jan; 30(1):107-109. PubMed ID: 35152680
[TBL] [Abstract][Full Text] [Related]
39. Prevalent Pathogenic Variants of
Yang GM; Wang RM; Xia N; Zheng ZW; Dong Y; Wu ZY
Genes (Basel); 2021 Feb; 12(3):. PubMed ID: 33668890
[TBL] [Abstract][Full Text] [Related]
40. High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Collet C; Laplanche JL; Page J; Morel H; Woimant F; Poujois A
BMC Med Genet; 2018 Aug; 19(1):143. PubMed ID: 30097039
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]